Canonical Allele Identifier: CA913188537
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32398606_32398608del , CM000675.2:g.32398606_32398608del GRCh38
NC_000013.10:g.32972743_32972745del , CM000675.1:g.32972743_32972745del GRCh37
NC_000013.9:g.31870743_31870745del NCBI36
NG_012772.3:g.88127_88129del , LRG_293:g.88127_88129del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.*616_*618del ENSP00000434898.2:n.*616_*618del
ENST00000528762.2:c.*1460_*1462del ENSP00000433168.2:n.*1460_*1462del
ENST00000530893.7:c.9724_9726del ENSP00000499438.2:p.Val3242del
ENST00000665585.2:c.*1655_*1657del ENSP00000499570.2:n.*1655_*1657del
ENST00000700202.2:c.10042_10044del ENSP00000514856.2:p.Val3348del
ENST00000700202.1:c.2509_2511del ENSP00000514856.1:p.Val837del
ENST00000700203.1:n.2220_2222del
ENST00000380152.8:c.10093_10095del MANE Select ENSP00000369497.3:p.Val3365del
ENST00000544455.6:c.10093_10095del ENSP00000439902.1:p.Val3365del
ENST00000614259.2:c.10101_10103del ENSP00000506251.1:n.10101_10103del
ENST00000680887.1:c.10093_10095del ENSP00000505508.1:p.Val3365del
ENST00000380152.7:c.10093_10095del ENSP00000369497.3:p.Val3365del
ENST00000544455.5:c.10093_10095del ENSP00000439902.1:p.Val3365del
NM_000059.3:c.10093_10095del , LRG_293t1:c.10093_10095del NP_000050.2:p.Val3365del
XM_011535203.1:c.10093_10095del XP_011533505.1:p.Val3365del
XM_011535204.1:c.9997_9999del XP_011533506.1:p.Val3333del
NM_000059.4:c.10093_10095del MANE Select NP_000050.3:p.Val3365del